Variant report

Variant	rs34327705
Chromosome Location	chr1:195817578-195817579
allele	CT/GG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10801463	0.84[EUR][1000 genomes]
rs10921948	0.83[EUR][1000 genomes]
rs10921957	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12040330	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12040353	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12058921	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4478792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv872941	chr1:195770204-195820337	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1014402	chr1:195792089-195877256	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv1815602	chr1:195796224-195830040	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2762212	chr1:195797081-195820890	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2757765	chr1:195803764-196119454	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2758989	chr1:195803764-196119454	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv470768	chr1:195804144-195872295	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv872942	chr1:195811203-195844389	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv872943	chr1:195811203-195849028	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195814400-195817800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:195814800-195818400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:195815000-195817800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:195815200-195817600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:195815400-195817600	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:195815800-195817600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:195815800-195818000	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:195816200-195817800	Active TSS	iPS-20b Cell Line	embryonic stem cell
9	chr1:195816800-195817600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:195817000-195817800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr1:195817000-195817800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:195817000-195818000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:195817000-195818200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:195817400-195817600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr1:195817400-195817800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:195817400-195818400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:195817400-195821200	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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